Detalhe da pesquisa
1.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci
; 24(18)2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762546
2.
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Fetal Diagn Ther
; 48(10): 746-756, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34775388
3.
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
Breast Cancer Res Treat
; 139(2): 597-602, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23624750
4.
Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report.
Diagnostics (Basel)
; 13(13)2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443653
5.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894
6.
Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
Virchows Arch
; 479(2): 413-418, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411029
7.
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Neurology
; 91(21): e1988-e1998, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30381368
8.
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
Hum Mutat
; 22(4): 337, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12955719
9.
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.
Hum Mutat
; 21(4): 452, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12655574
10.
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Hum Mutat
; 22(4): 301-12, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12955716
11.
[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer]. / Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario.
Med Clin (Barc)
; 123(14): 543-5, 2004 Oct 23.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15535929
12.
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
JAMA Neurol
; 70(6): 764-71, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23700170
13.
Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?
Breast Cancer Res Treat
; 92(3): 273-7, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155798